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MCID: PLY006
MIFTS: 57

Polydactyly

Categories: Rare diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Polydactyly

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MalaCards integrated aliases for Polydactyly:

Name: Polydactyly 57 12 76 53 29 55 6 44 15 40
Polydactyly, Postaxial 44 73
Non-Syndromic Polydactyly 53
Postaxial Polydactyly 12
Polydactyly Postaxial 76
Supernumerary Digits 53
Supernumerary Digit 12
Polydactylism 53
Extra Digits 53
Hyperdactyly 53
Polydactylia 53

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 603596
Disease Ontology 12 DOID:1148
ICD10 33 Q69 Q69.9
ICD9CM 35 755.0 755.00
NCIt 50 C87110
MedGen 42 C0152427
Sources

Summaries for Polydactyly

About this section
NIH Rare Diseases : 53 Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. In some cases, the extra digits may be well-formed and functional. Surgery may be considered especially for poorly formed digits or very large extra digits. Surgical management depends greatly on the complexity of the deformity.

MalaCards based summary : Polydactyly, also known as polydactyly, postaxial, is related to polydactyly, preaxial ii and tibia, hypoplasia or aplasia of, with polydactyly. An important gene associated with Polydactyly is MKS1 (Meckel Syndrome, Type 1), and among its related pathways/superpathways are Signaling by Hedgehog and Organelle biogenesis and maintenance. The drugs Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Polydactyly or polydactylism (from Greek πολύς (polys), meaning \'many\', and δάκτυλος (daktylos),... more...

Description from OMIM: 603596
Sources

Related Diseases for Polydactyly

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Diseases in the Polydactyly family:

Central Polydactyly

Diseases related to Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 382)
# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial ii 34.1 LMBR1 SHH
2 tibia, hypoplasia or aplasia of, with polydactyly 34.0 LMBR1 SHH
3 polydactyly, postaxial, type a1 33.5 GLI3 ZNF141
4 short-rib thoracic dysplasia 1 with or without polydactyly 33.1 DYNC2H1 DYNC2LI1 WDR34 WDR35 WDR60
5 laurin-sandrow syndrome 32.8 LMBR1 MIPOL1 SHH
6 short-rib thoracic dysplasia 3 with or without polydactyly 32.6 DYNC2H1 DYNC2LI1 NEK1 TCTEX1D2 WDR34 WDR35
7 pallister-hall syndrome 32.2 GLI3 MKKS SHH
8 syndactyly, type iv 31.5 LMBR1 SHH
9 ellis-van creveld syndrome 31.5 DYNC2H1 DYNC2LI1 NEK1 WDR34 WDR35 WDR60
10 bardet-biedl syndrome 4 30.4 BBS1 BBS2 BBS4
11 bardet-biedl syndrome 3 30.3 BBS1 BBS2 BBS4
12 asphyxiating thoracic dystrophy 30.3 BBS1 DYNC2H1 DYNC2LI1 NEK1 TCTEX1D2 WDR34
13 radial hemimelia 30.3 LMBR1 SHH
14 mckusick-kaufman syndrome 30.2 BBS1 BBS2 BBS4 GLI3 MKKS
15 bardet-biedl syndrome 17 30.1 BBS1 BBS2 BBS4 SHH
16 bardet-biedl syndrome 8 29.8 BBS1 BBS2 BBS4 TTC8
17 bardet-biedl syndrome 15 29.5 BBS2 BBS4 MKKS
18 bardet-biedl syndrome 18 29.5 BBS1 BBS2 BBS4 TTC8
19 bardet-biedl syndrome 13 29.3 BBS1 BBS2 BBS4 MKS1
20 bardet-biedl syndrome 6 29.0 BBS1 BBS2 BBS4 MKKS
21 bardet-biedl syndrome 1 28.4 BBS1 BBS2 BBS4 MKKS TTC8
22 cleft lip/palate 28.3 DYNC2H1 DYNC2LI1 NEK1 TCTEX1D2 WDR34 WDR35
23 bardet-biedl syndrome 27.8 BBS1 BBS2 BBS4 MKKS MKS1 TTC8
24 tetralogy of fallot 26.9 BBS1 BBS2 BBS4 MKKS
25 short-rib thoracic dysplasia 6 with or without polydactyly 12.4
26 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.3
27 polydactyly, preaxial i 12.3
28 short-rib thoracic dysplasia 10 with or without polydactyly 12.3
29 short-rib thoracic dysplasia 4 with or without polydactyly 12.2
30 short-rib thoracic dysplasia 5 with or without polydactyly 12.2
31 dandy-walker malformation with postaxial polydactyly 12.2
32 short-rib thoracic dysplasia 7 with or without polydactyly 12.2
33 preaxial deficiency, postaxial polydactyly, and hypospadias 12.2
34 short-rib thoracic dysplasia 2 with or without polydactyly 12.2
35 short-rib thoracic dysplasia 8 with or without polydactyly 12.1
36 polydactyly, preaxial iii 12.1
37 polydactyly, preaxial iv 12.1
38 short-rib thoracic dysplasia 11 with or without polydactyly 12.1
39 tibia absent polydactyly arachnoid cyst 12.1
40 scalp defects and postaxial polydactyly 12.1
41 short-rib thoracic dysplasia 14 with polydactyly 12.1
42 short-rib thoracic dysplasia 15 with polydactyly 12.1
43 short-rib thoracic dysplasia 16 with or without polydactyly 12.1
44 short-rib thoracic dysplasia 17 with or without polydactyly 12.1
45 short-rib thoracic dysplasia 18 with polydactyly 12.1
46 polydactyly cleft lip palate psychomotor retardation 12.1
47 short-rib thoracic dysplasia 9 with or without polydactyly 12.1
48 polydactyly, postaxial, with progressive myopia 12.1
49 short-rib thoracic dysplasia 19 with or without polydactyly 12.1
50 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.1

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to Polydactyly
Sources

Symptoms & Phenotypes for Polydactyly

About this section

Clinical features from OMIM:

603596

GenomeRNAi Phenotypes related to Polydactyly according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.83 ZNF141
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.83 NEK1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.83 BBS1 NEK1 ZNF141
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 ZNF141
5 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.83 NEK1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.83 ZNF141
7 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.83 BBS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.83 NEK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 BBS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 ZNF141
11 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.83 ZNF141
12 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.83 NEK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 NEK1
14 Increased vaccinia virus (VACV) infection GR00249-S 9.6 WDR34 WDR35 WDR60 ZNF141 BBS1 BBS2

MGI Mouse Phenotypes related to Polydactyly:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
2 growth/size/body region MP:0005378 10.29 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
3 cardiovascular system MP:0005385 10.26 BBS1 BBS4 CCND2 DYNC2H1 DYNC2LI1 GLI3
4 mortality/aging MP:0010768 10.25 MKS1 NEK1 SHH TTC8 WDR35 BBS1
5 homeostasis/metabolism MP:0005376 10.22 BBS1 BBS2 BBS4 CCND2 DYNC2LI1 GLI3
6 nervous system MP:0003631 10.22 GLI3 MIPOL1 MKKS MKS1 NEK1 SHH
7 craniofacial MP:0005382 10.19 BBS1 BBS4 DYNC2H1 GLI3 MKKS MKS1
8 limbs/digits/tail MP:0005371 10.16 SHH WDR35 BBS1 BBS2 DYNC2H1 DYNC2LI1
9 digestive/alimentary MP:0005381 10.07 MKS1 SHH WDR35 BBS2 BBS4 DYNC2H1
10 renal/urinary system MP:0005367 10.02 BBS1 BBS2 BBS4 DYNC2H1 GLI3 MKS1
11 hearing/vestibular/ear MP:0005377 9.97 BBS1 BBS4 GLI3 MKKS MKS1 SHH
12 reproductive system MP:0005389 9.97 BBS4 CCND2 GLI3 MKKS MKS1 NEK1
13 respiratory system MP:0005388 9.91 BBS1 BBS4 DYNC2H1 GLI3 MKKS MKS1
14 skeleton MP:0005390 9.76 DYNC2H1 GLI3 LMBR1 MKS1 NEK1 SHH
15 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 GLI3 MKKS SHH
16 vision/eye MP:0005391 9.36 BBS1 BBS2 BBS4 CCND2 DYNC2H1 GLI3
Sources

Drugs & Therapeutics for Polydactyly

About this section

Drugs for Polydactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Liver Extracts
3 insulin
4 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triphalangeal Thumbs in the Pediatric Population: Long Term Outcomes Following Surgical Intervention Completed NCT01409980
2 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
3 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
4 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
5 Visualize Nociceptor Changes in Neuropathic Human Not yet recruiting NCT03112057 Not Applicable
6 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Polydactyly

Cochrane evidence based reviews: polydactyly

Sources

Genetic Tests for Polydactyly

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Genetic tests related to Polydactyly:

# Genetic test Affiliating Genes
1 Polydactyly 29
Sources

Anatomical Context for Polydactyly

About this section

MalaCards organs/tissues related to Polydactyly:

41
Heart, Kidney, Liver, Tongue, Bone, Brain, Skin
Sources

Publications for Polydactyly

About this section

Articles related to Polydactyly:

(show top 50) (show all 742)
# Title Authors Year
1
Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin. ( 29587601 )
2018
2
Secondary infection of preaxial polydactyly following varicella infection. ( 29536966 )
2018
3
Polydactyly, postaxial, type B. ( 29377639 )
2018
4
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in aA fetus. ( 29458881 )
2018
5
Radial Polydactyly. What's New?. ( 29366421 )
2018
6
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications. ( 29876959 )
2018
7
Visual Diagnosis: Visual Impairment, Polydactyly, and Obesity: Red Flags in a Child. ( 29716976 )
2018
8
A threshold model for polydactyly. ( 29739620 )
2018
9
Complete First Ray Polydactyly: A Case Report. ( 29748102 )
2018
10
A rare case of ulnar polydactyly. ( 29806522 )
2018
11
The association between preaxial polydactyly and radial longitudinal deficiency in syndromic cases: a report on nine families. ( 29451098 )
2018
12
Empty sella associated with growth hormone deficiency and polydactyly. ( 29940653 )
2018
13
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. ( 29271569 )
2018
14
Proliferation of nerve fibres as a novel feature of pacifier polydactyly. ( 29547129 )
2018
15
Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree. ( 28690477 )
2018
16
An On-Top-Plasty Reconstruction for Complicated Radial Polydactyly. ( 29313380 )
2018
17
Polydactyly of the Hand. ( 29309292 )
2018
18
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. ( 29159890 )
2018
19
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. ( 29642246 )
2018
20
Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis. ( 29651423 )
2018
21
Thenar Dysplasia in Radial Polydactyly Depends on the Level of Bifurcation. ( 29280874 )
2018
22
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. ( 28315472 )
2017
23
Does timing of surgery influence the long-term results of foot polydactyly treatment? ( 29409237 )
2017
24
Oblique osteotomy for the correction of the zigzag deformity of Wassel type IV polydactyly. ( 28820841 )
2017
25
Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome. ( 28153592 )
2017
26
Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome. ( 29241935 )
2017
27
Genetic pattern and gene localization of polydactyly in Beijing fatty chicken. ( 28489934 )
2017
28
Incidence of Acute Complications Following SurgeryA for Syndactyly and Polydactyly: An Analysis of the National Surgical Quality Improvement Program Database from 2012 to 2014. ( 28648327 )
2017
29
Analysis of surgical results and of residual postoperative deformities in preaxial polydactyly of the hand. ( 28579036 )
2017
30
Polydactyly suggesting local husbandry of Pre-Columbian camelids: A case from Castillo de Huarmey archaeological site, northern coast of Peru. ( 28290309 )
2017
31
Preaxial polydactyly of the foot. ( 28946786 )
2017
32
Polydactyly in Development, Inheritance, and Evolution. ( 29558608 )
2017
33
Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly. ( 28127823 )
2017
34
Girl with polydactyly and pigmentary retinopathy. ( 28370859 )
2017
35
Characterization of polydactyly-derived chondrocyte sheets versus adult chondrocyte sheets for articular cartilage repair. ( 29259721 )
2017
36
Association of SNP rs80659072 in the ZRS with polydactyly in Beijing You chickens. ( 29016641 )
2017
37
Girl with polydactyly and pigmentary retinopathy. ( 28370861 )
2017
38
Genetic Overview of Syndactyly and Polydactyly. ( 29263957 )
2017
39
A Modified Bilhaut-Cloquet Procedure for Zigzag Thumb Polydactyly Types III and IV. ( 29632769 )
2017
40
GLI3-related polydactyly: a review. ( 28224613 )
2017
41
Treatment of postaxial polydactyly with plantar plate and medial collateral ligament reconstruction after supernumerary excision: A case report. ( 29085641 )
2017
42
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. ( 28488682 )
2017
43
Reconstruction of Wassel Type VI Radial Polydactyly with Triphalangeal Thumb Using an On-top Osteotomy. ( 28280661 )
2017
44
Isolated heptadactylia: A case report of central polydactyly of the foot. ( 29049244 )
2017
45
Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. ( 28815892 )
2017
46
Management of Postaxial Polydactyly in the Neonatal Unit. ( 29084325 )
2017
47
Achondroplasia with Polydactyly: A Case Report. ( 28511523 )
2017
48
Noncontiguous Double Spinal Lipoma with Tethered Cord and Polydactyly: Two Different Embryological Events in One Patient. ( 28553379 )
2017
49
Pedunculated Hemorrhagic Cystic Swelling: An Unusual Presentation of Polydactyly. ( 28584766 )
2017
50
Homozygous mutation in<i>CEP19,</i>a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2017
Sources

Variations for Polydactyly

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ClinVar genetic disease variations for Polydactyly:

6
(show top 50) (show all 293)
# Gene Variation Type Significance SNP ID Assembly Location
1 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Pathogenic rs137853105 GRCh37 Chromosome 17, 56283840: 56283840
2 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Pathogenic rs137853105 GRCh38 Chromosome 17, 58206479: 58206479
3 GLI3 NM_000168.5(GLI3): c.2826G> C (p.Pro942=) single nucleotide variant Benign/Likely benign rs34245321 GRCh37 Chromosome 7, 42005845: 42005845
4 GLI3 NM_000168.5(GLI3): c.2826G> C (p.Pro942=) single nucleotide variant Benign/Likely benign rs34245321 GRCh38 Chromosome 7, 41966247: 41966247
5 GLI3 NM_000168.5(GLI3): c.3664C> T (p.Pro1222Ser) single nucleotide variant Benign/Likely benign rs118149040 GRCh37 Chromosome 7, 42005007: 42005007
6 GLI3 NM_000168.5(GLI3): c.3664C> T (p.Pro1222Ser) single nucleotide variant Benign/Likely benign rs118149040 GRCh38 Chromosome 7, 41965409: 41965409
7 GLI3 NM_000168.5(GLI3): c.2835G> C (p.Leu945=) single nucleotide variant Benign/Likely benign rs61758978 GRCh37 Chromosome 7, 42005836: 42005836
8 GLI3 NM_000168.5(GLI3): c.2835G> C (p.Leu945=) single nucleotide variant Benign/Likely benign rs61758978 GRCh38 Chromosome 7, 41966238: 41966238
9 GLI3 NM_000168.5(GLI3): c.1207G> A (p.Val403Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201070431 GRCh38 Chromosome 7, 42026234: 42026234
10 GLI3 NM_000168.5(GLI3): c.1207G> A (p.Val403Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201070431 GRCh37 Chromosome 7, 42065833: 42065833
11 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic rs754279998 GRCh37 Chromosome 17, 56285514: 56285516
12 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic rs754279998 GRCh38 Chromosome 17, 58208153: 58208155
13 GLI3 NM_000168.5(GLI3): c.*30G> T single nucleotide variant Likely benign rs77886553 GRCh37 Chromosome 7, 42003898: 42003898
14 GLI3 NM_000168.5(GLI3): c.*30G> T single nucleotide variant Likely benign rs77886553 GRCh38 Chromosome 7, 41964300: 41964300
15 GLI3 NM_000168.5(GLI3): c.*11A> G single nucleotide variant Likely benign rs139896177 GRCh37 Chromosome 7, 42003917: 42003917
16 GLI3 NM_000168.5(GLI3): c.*11A> G single nucleotide variant Likely benign rs139896177 GRCh38 Chromosome 7, 41964319: 41964319
17 GLI3 NM_000168.5(GLI3): c.4609C> T (p.Arg1537Cys) single nucleotide variant Benign/Likely benign rs35364414 GRCh37 Chromosome 7, 42004062: 42004062
18 GLI3 NM_000168.5(GLI3): c.4609C> T (p.Arg1537Cys) single nucleotide variant Benign/Likely benign rs35364414 GRCh38 Chromosome 7, 41964464: 41964464
19 GLI3 NM_000168.5(GLI3): c.4071C> T (p.Tyr1357=) single nucleotide variant Benign rs34089404 GRCh38 Chromosome 7, 41965002: 41965002
20 GLI3 NM_000168.5(GLI3): c.4071C> T (p.Tyr1357=) single nucleotide variant Benign rs34089404 GRCh37 Chromosome 7, 42004600: 42004600
21 GLI3 NM_000168.5(GLI3): c.4020C> T (p.Pro1340=) single nucleotide variant Benign/Likely benign rs35139358 GRCh37 Chromosome 7, 42004651: 42004651
22 GLI3 NM_000168.5(GLI3): c.4020C> T (p.Pro1340=) single nucleotide variant Benign/Likely benign rs35139358 GRCh38 Chromosome 7, 41965053: 41965053
23 GLI3 NM_000168.5(GLI3): c.4007G> A (p.Gly1336Glu) single nucleotide variant Benign/Likely benign rs35280470 GRCh37 Chromosome 7, 42004664: 42004664
24 GLI3 NM_000168.5(GLI3): c.4007G> A (p.Gly1336Glu) single nucleotide variant Benign/Likely benign rs35280470 GRCh38 Chromosome 7, 41965066: 41965066
25 GLI3 NM_000168.5(GLI3): c.3894G> A (p.Pro1298=) single nucleotide variant Likely benign rs530418832 GRCh37 Chromosome 7, 42004777: 42004777
26 GLI3 NM_000168.5(GLI3): c.3894G> A (p.Pro1298=) single nucleotide variant Likely benign rs530418832 GRCh38 Chromosome 7, 41965179: 41965179
27 GLI3 NM_000168.5(GLI3): c.3774C> G (p.Leu1258=) single nucleotide variant Benign/Likely benign rs35448119 GRCh37 Chromosome 7, 42004897: 42004897
28 GLI3 NM_000168.5(GLI3): c.3774C> G (p.Leu1258=) single nucleotide variant Benign/Likely benign rs35448119 GRCh38 Chromosome 7, 41965299: 41965299
29 GLI3 NM_000168.5(GLI3): c.2993C> T (p.Pro998Leu) single nucleotide variant Benign rs929387 GRCh38 Chromosome 7, 41966080: 41966080
30 GLI3 NM_000168.5(GLI3): c.2993C> T (p.Pro998Leu) single nucleotide variant Benign rs929387 GRCh37 Chromosome 7, 42005678: 42005678
31 GLI3 NM_000168.5(GLI3): c.1509C> T (p.Asn503=) single nucleotide variant Benign/Likely benign rs34020684 GRCh37 Chromosome 7, 42018336: 42018336
32 GLI3 NM_000168.5(GLI3): c.1509C> T (p.Asn503=) single nucleotide variant Benign/Likely benign rs34020684 GRCh38 Chromosome 7, 41978737: 41978737
33 GLI3 NM_000168.5(GLI3): c.1393G> C (p.Gly465Arg) single nucleotide variant Benign/Likely benign rs35488756 GRCh37 Chromosome 7, 42063171: 42063171
34 GLI3 NM_000168.5(GLI3): c.1393G> C (p.Gly465Arg) single nucleotide variant Benign/Likely benign rs35488756 GRCh38 Chromosome 7, 42023572: 42023572
35 GLI3 NM_000168.5(GLI3): c.1356+11G> C single nucleotide variant Benign rs846273 GRCh37 Chromosome 7, 42064852: 42064852
36 GLI3 NM_000168.5(GLI3): c.1356+11G> C single nucleotide variant Benign rs846273 GRCh38 Chromosome 7, 42025253: 42025253
37 GLI3 NM_000168.5(GLI3): c.1029-11C> T single nucleotide variant Benign/Likely benign rs116195563 GRCh37 Chromosome 7, 42066022: 42066022
38 GLI3 NM_000168.5(GLI3): c.1029-11C> T single nucleotide variant Benign/Likely benign rs116195563 GRCh38 Chromosome 7, 42026423: 42026423
39 GLI3 NM_000168.5(GLI3): c.1029-16dupT duplication Likely benign rs559579130 GRCh37 Chromosome 7, 42066027: 42066027
40 GLI3 NM_000168.5(GLI3): c.1029-16dupT duplication Likely benign rs559579130 GRCh38 Chromosome 7, 42026428: 42026428
41 GLI3 NM_000168.5(GLI3): c.900C> T (p.Ser300=) single nucleotide variant Benign rs35961850 GRCh38 Chromosome 7, 42040166: 42040166
42 GLI3 NM_000168.5(GLI3): c.900C> T (p.Ser300=) single nucleotide variant Benign rs35961850 GRCh37 Chromosome 7, 42079765: 42079765
43 GLI3 NM_000168.5(GLI3): c.840C> G (p.Ser280=) single nucleotide variant Benign/Likely benign rs77084911 GRCh38 Chromosome 7, 42040226: 42040226
44 GLI3 NM_000168.5(GLI3): c.840C> G (p.Ser280=) single nucleotide variant Benign/Likely benign rs77084911 GRCh37 Chromosome 7, 42079825: 42079825
45 GLI3 NM_000168.5(GLI3): c.547A> G (p.Thr183Ala) single nucleotide variant Benign rs846266 GRCh37 Chromosome 7, 42088222: 42088222
46 GLI3 NM_000168.5(GLI3): c.547A> G (p.Thr183Ala) single nucleotide variant Benign rs846266 GRCh38 Chromosome 7, 42048623: 42048623
47 GLI3 NM_000168.5(GLI3): c.537C> T (p.His179=) single nucleotide variant Benign rs3898405 GRCh38 Chromosome 7, 42048633: 42048633
48 GLI3 NM_000168.5(GLI3): c.537C> T (p.His179=) single nucleotide variant Benign rs3898405 GRCh37 Chromosome 7, 42088232: 42088232
49 GLI3 NM_000168.5(GLI3): c.3118G> A (p.Glu1040Lys) single nucleotide variant Uncertain significance rs772839719 GRCh37 Chromosome 7, 42005553: 42005553
50 GLI3 NM_000168.5(GLI3): c.3118G> A (p.Glu1040Lys) single nucleotide variant Uncertain significance rs772839719 GRCh38 Chromosome 7, 41965955: 41965955

Copy number variations for Polydactyly from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 97909 16 14700000 16700000 Duplication or delet ion polydactyly
Sources

Expression for Polydactyly

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Search GEO for disease gene expression data for Polydactyly.
Sources

Pathways for Polydactyly

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Pathways related to Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Signaling by Hedgehog 66
Show member pathways
 12.19 DYNC2H1 GLI3 MKS1 SHH WDR35
2
Organelle biogenesis and maintenance 66
Show member pathways
 12.13 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 MKKS
3
Ectoderm Differentiation 1
11.74 GLI3 MKS1 SHH
4
Hedgehog Pathway 72
Show member pathways
 11.65 CCND2 GLI3 SHH
5
Cargo trafficking to the periciliary membrane 66
Show member pathways
 11.58 BBS1 BBS2 BBS4 MKKS TTC8
6
Intraflagellar transport 66
11.05 DYNC2H1 DYNC2LI1 TCTEX1D2 WDR34 WDR35 WDR60
7
Tgif disruption of Shh signaling 1
10.28 GLI3 SHH
Sources

GO Terms for Polydactyly

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Cellular components related to Polydactyly according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.89 BBS2 BBS4 DYNC2H1 DYNC2LI1 MKKS
2 centrosome GO:0005813 9.85 BBS1 BBS4 DYNC2LI1 MKKS MKS1 NEK1
3 ciliary membrane GO:0060170 9.83 BBS1 BBS2 BBS4 TTC8
4 dynein complex GO:0030286 9.81 DYNC2H1 DYNC2LI1 WDR34 WDR60
5 cytoplasmic dynein complex GO:0005868 9.8 DYNC2H1 DYNC2LI1 TCTEX1D2 WDR34 WDR60
6 ciliary tip GO:0097542 9.8 DYNC2H1 DYNC2LI1 GLI3 WDR34 WDR35 WDR60
7 axoneme GO:0005930 9.8 BBS1 DYNC2H1 DYNC2LI1 GLI3 TCTEX1D2 WDR34
8 BBSome GO:0034464 9.76 BBS1 BBS2 BBS4 TTC8
9 centriole GO:0005814 9.75 BBS4 MKS1 WDR34
10 ciliary transition zone GO:0035869 9.73 BBS4 DYNC2LI1 MKS1
11 ciliary base GO:0097546 9.72 GLI3 TCTEX1D2 WDR60
12 pericentriolar material GO:0000242 9.71 BBS4 NEK1 WDR60
13 cilium GO:0005929 9.7 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
14 interphase microtubule organizing center GO:0031021 9.57 TCTEX1D2 WDR60
15 ciliary basal body GO:0036064 9.28 BBS1 BBS2 BBS4 DYNC2LI1 MKKS MKS1
16 cytoplasm GO:0005737 10.4 BBS1 BBS2 BBS4 CCND2 DYNC2H1 DYNC2LI1
17 cytoskeleton GO:0005856 10.22 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 MKKS
18 cell projection GO:0042995 10.17 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
19 microtubule organizing center GO:0005815 10.02 BBS1 BBS2 BBS4 DYNC2LI1 MKKS MKS1

Biological processes related to Polydactyly according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.99 BBS2 BBS4 MKKS SHH WDR35
2 heart development GO:0007507 9.98 DYNC2H1 GLI3 MKKS SHH
3 visual perception GO:0007601 9.96 BBS1 BBS2 BBS4 MKKS
4 microtubule-based movement GO:0007018 9.88 DYNC2H1 WDR34 WDR60
5 fat cell differentiation GO:0045444 9.86 BBS2 BBS4 MKKS TTC8
6 hippocampus development GO:0021766 9.85 BBS2 BBS4 GLI3 MKKS
7 forebrain development GO:0030900 9.84 DYNC2H1 GLI3 SHH
8 cerebral cortex development GO:0021987 9.84 BBS2 BBS4 MKKS
9 embryonic digit morphogenesis GO:0042733 9.84 GLI3 LMBR1 MKS1 SHH
10 heart looping GO:0001947 9.83 BBS4 MKKS SHH
11 embryonic limb morphogenesis GO:0030326 9.82 DYNC2H1 GLI3 SHH
12 negative regulation of GTPase activity GO:0034260 9.82 BBS4 MKKS TTC8
13 dorsal/ventral pattern formation GO:0009953 9.81 DYNC2H1 GLI3 SHH
14 positive regulation of multicellular organism growth GO:0040018 9.8 BBS2 BBS4 MKKS
15 branching morphogenesis of an epithelial tube GO:0048754 9.78 GLI3 MKS1 SHH
16 melanosome transport GO:0032402 9.77 BBS2 BBS4 MKKS
17 cilium assembly GO:0060271 9.77 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 MKKS
18 brain morphogenesis GO:0048854 9.76 BBS2 BBS4 MKKS
19 photoreceptor cell maintenance GO:0045494 9.76 BBS1 BBS2 BBS4 MKKS
20 spinal cord motor neuron differentiation GO:0021522 9.75 DYNC2H1 GLI3 SHH
21 regulation of stress fiber assembly GO:0051492 9.74 BBS4 MKKS TTC8
22 determination of left/right symmetry GO:0007368 9.72 DYNC2H1 DYNC2LI1 MKKS MKS1 SHH
23 limb morphogenesis GO:0035108 9.71 GLI3 ZNF141
24 anatomical structure formation involved in morphogenesis GO:0048646 9.71 GLI3 SHH
25 inner ear receptor cell stereocilium organization GO:0060122 9.7 MKS1 TTC8
26 vasodilation GO:0042311 9.7 BBS2 MKKS
27 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 SHH
28 embryonic digestive tract morphogenesis GO:0048557 9.7 GLI3 SHH
29 striatum development GO:0021756 9.7 BBS2 BBS4 MKKS
30 non-motile cilium assembly GO:1905515 9.7 BBS1 BBS2 BBS4 DYNC2H1 MKKS MKS1
31 negative regulation of actin filament polymerization GO:0030837 9.69 BBS4 MKKS
32 face development GO:0060324 9.69 BBS4 MKKS
33 prostate gland development GO:0030850 9.69 GLI3 SHH
34 response to leptin GO:0044321 9.69 BBS2 BBS4 MKKS
35 protein localization to organelle GO:0033365 9.68 BBS2 BBS4
36 embryonic morphogenesis GO:0048598 9.68 GLI3 SHH
37 artery smooth muscle contraction GO:0014824 9.68 BBS2 MKKS
38 negative thymic T cell selection GO:0045060 9.67 GLI3 SHH
39 positive regulation of alpha-beta T cell differentiation GO:0046638 9.67 GLI3 SHH
40 intraciliary retrograde transport GO:0035721 9.67 DYNC2H1 DYNC2LI1 WDR35
41 protein localization to cilium GO:0061512 9.67 BBS1 BBS4 DYNC2H1 WDR35
42 artery development GO:0060840 9.66 GLI3 SHH
43 leptin-mediated signaling pathway GO:0033210 9.65 BBS2 BBS4 MKKS
44 intraciliary transport involved in cilium assembly GO:0035735 9.65 DYNC2H1 DYNC2LI1 WDR34 WDR35 WDR60
45 spinal cord dorsal/ventral patterning GO:0021513 9.64 GLI3 SHH
46 hindgut morphogenesis GO:0007442 9.63 GLI3 SHH
47 sensory processing GO:0050893 9.62 BBS4 TTC8
48 negative regulation of alpha-beta T cell differentiation GO:0046639 9.61 GLI3 SHH
49 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.61 BBS2 BBS4 MKKS
50 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.58 BBS2 BBS4 MKKS

Molecular functions related to Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light chain binding GO:0045503 9.33 DYNC2H1 WDR34 WDR60
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DYNC2H1 DYNC2LI1
3 patched binding GO:0005113 9.26 BBS1 SHH
4 dynein heavy chain binding GO:0045504 9.13 DYNC2LI1 WDR34 WDR60
5 RNA polymerase II repressing transcription factor binding GO:0001103 9.02 BBS1 BBS2 BBS4 MKKS TTC8
Sources

Sources for Polydactyly

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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